Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation

Retinitis pigmentosa (RP) is the most common hereditary retinal disorder and is characterized by progressive retinal degeneration and decline in vision. RP comprises a heterogeneous group of disorders caused by various genetic variants. Since the first discovery of the causal mutation in the RHO gene using positional cloning, numerous mutations have been detected in more than 60 loci and 50 genes. However, causal genes have not been discovered in about 50% of cases. We attempt here to review the strategies to identify causal alleles of retinitis pigmentosa. These include conventional methods as well as state-of-the-art technologies based on next-generation sequencing.

Autoregulation of gene expression: rho.

Autoregulation of the rho gene insures a controlled level of a critical gene product independent of cellular changes. We have investigated the autoregulation of rho, the gene that encodes the transcription termination factor, rho. In a DNA dependent in vitro coupled transcription-translation system, rho represses its own synthesis, confirming the autoregulatory nature of rho. srho is believed to perform its negative regulatory role by modulating transcription termination at an early site in the operon.